Incidental Mutation 'R3859:Ctla2b'
ID 276303
Institutional Source Beutler Lab
Gene Symbol Ctla2b
Ensembl Gene ENSMUSG00000074874
Gene Name cytotoxic T lymphocyte-associated protein 2 beta
Synonyms Ctla-2b
MMRRC Submission 040787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3859 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 61043164-61045261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61043857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 128 (Y128F)
Ref Sequence ENSEMBL: ENSMUSP00000153232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021884] [ENSMUST00000171347] [ENSMUST00000225167] [ENSMUST00000225439] [ENSMUST00000225690] [ENSMUST00000225859]
AlphaFold P12400
Predicted Effect probably benign
Transcript: ENSMUST00000021884
AA Change: Y104F

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021884
Gene: ENSMUSG00000074874
AA Change: Y104F

DomainStartEndE-ValueType
Inhibitor_I29 16 75 1.85e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171347
AA Change: Y104F

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131083
Gene: ENSMUSG00000074874
AA Change: Y104F

DomainStartEndE-ValueType
Inhibitor_I29 16 75 1.85e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225167
AA Change: Y128F

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000225382
Predicted Effect probably benign
Transcript: ENSMUST00000225439
Predicted Effect probably benign
Transcript: ENSMUST00000225690
Predicted Effect unknown
Transcript: ENSMUST00000225732
AA Change: Y50F
Predicted Effect possibly damaging
Transcript: ENSMUST00000225859
AA Change: Y128F

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000225802
Meta Mutation Damage Score 0.1060 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 95% (36/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A G 12: 84,090,218 (GRCm39) N305S probably benign Het
Ahnak A G 19: 8,988,223 (GRCm39) E3169G possibly damaging Het
Cav2 G T 6: 17,281,462 (GRCm39) D35Y probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Cps1 A G 1: 67,207,437 (GRCm39) Y582C probably damaging Het
Dnajc5b G T 3: 19,628,966 (GRCm39) G87* probably null Het
Erc2 A G 14: 28,197,599 (GRCm39) probably benign Het
Ezhip A G X: 5,994,710 (GRCm39) S102P possibly damaging Het
Fat3 G A 9: 15,908,524 (GRCm39) Q2493* probably null Het
Fbl G A 7: 27,873,935 (GRCm39) probably benign Het
Fbp1 C T 13: 63,012,930 (GRCm39) G88S probably damaging Het
Fzd3 A T 14: 65,477,288 (GRCm39) C89S possibly damaging Het
Gnao1 C T 8: 94,538,273 (GRCm39) probably benign Het
Hspa14 A T 2: 3,495,616 (GRCm39) C304* probably null Het
Itih4 T C 14: 30,614,286 (GRCm39) L412P probably damaging Het
Kdm2b A G 5: 123,018,290 (GRCm39) L995P probably damaging Het
Krt12 G A 11: 99,309,319 (GRCm39) L314F possibly damaging Het
Nfatc1 T C 18: 80,708,490 (GRCm39) probably benign Het
Or4c111 A G 2: 88,844,405 (GRCm39) M1T probably null Het
Or5b119 T A 19: 13,457,494 (GRCm39) I23F possibly damaging Het
Or8b55 G A 9: 38,727,443 (GRCm39) V215I probably benign Het
Papss1 T A 3: 131,313,096 (GRCm39) L349Q probably benign Het
Pcdha6 C T 18: 37,102,984 (GRCm39) P6S possibly damaging Het
Pik3r2 T C 8: 71,222,630 (GRCm39) E487G probably damaging Het
Pkd1 A G 17: 24,797,066 (GRCm39) probably benign Het
Prl8a9 C T 13: 27,742,147 (GRCm39) G238E probably damaging Het
Pth2r A T 1: 65,361,206 (GRCm39) I52F probably damaging Het
Purg T C 8: 33,876,587 (GRCm39) F75S possibly damaging Het
Rpgrip1l T C 8: 91,990,286 (GRCm39) T719A probably benign Het
Slc8a3 G A 12: 81,361,646 (GRCm39) P391L probably damaging Het
Syne2 T C 12: 75,976,558 (GRCm39) L1241P possibly damaging Het
Tdrd12 A G 7: 35,193,245 (GRCm39) F402L possibly damaging Het
Tle4 G A 19: 14,445,577 (GRCm39) T223I probably benign Het
Tram2 A C 1: 21,074,204 (GRCm39) F245V probably damaging Het
Trim30b T C 7: 104,006,487 (GRCm39) E123G probably benign Het
Unc13c G T 9: 73,606,390 (GRCm39) Y1323* probably null Het
Zfp2 T C 11: 50,790,923 (GRCm39) I373M possibly damaging Het
Other mutations in Ctla2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Ctla2b APN 13 61,044,503 (GRCm39) makesense probably null
IGL03088:Ctla2b APN 13 61,043,874 (GRCm39) missense probably damaging 1.00
R0179:Ctla2b UTSW 13 61,044,107 (GRCm39) missense possibly damaging 0.82
R1950:Ctla2b UTSW 13 61,043,863 (GRCm39) missense possibly damaging 0.91
R2001:Ctla2b UTSW 13 61,043,881 (GRCm39) missense probably damaging 0.99
R5226:Ctla2b UTSW 13 61,044,146 (GRCm39) nonsense probably null
R5393:Ctla2b UTSW 13 61,043,946 (GRCm39) missense probably damaging 1.00
R9564:Ctla2b UTSW 13 61,043,856 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCAGTACAGTGGCTTTGTCAC -3'
(R):5'- GTGACTTGGTGAGTGAGACAC -3'

Sequencing Primer
(F):5'- GCAGTACAGTGGCTTTGTCACAATAC -3'
(R):5'- GTGAGTGAGACACTGATTGTTAATTC -3'
Posted On 2015-04-06